FRUCT
MCID: FRC005
MIFTS: 30

Fructosuria, Essential (FRUCT)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Fructosuria, Essential

MalaCards integrated aliases for Fructosuria, Essential:

Name: Fructosuria, Essential 57 29 6 40
Ketohexokinase Deficiency 57 53 59
Fructosuria 57 75 74
Hepatic Fructokinase Deficiency 57 53
Essential Fructosuria 53 59
Essential Benign Fructosuria 53
Deficiency of Fructokinase 72
Fructokinase Deficiency 59
Fruct 74

Characteristics:

Orphanet epidemiological data:

59
essential fructosuria
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
benign, asymptomatic defect


HPO:

32
fructosuria, essential:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 229800
MESH via Orphanet 45 C538068
ICD10 via Orphanet 34 E74.1
UMLS via Orphanet 73 C0268160
Orphanet 59 ORPHA2056
MedGen 42 C0268160
UMLS 72 C0268160

Summaries for Fructosuria, Essential

OMIM : 57 Essential fructosuria is a benign, asymptomatic defect of intermediary metabolism characterized by the intermittent appearance of fructose in the urine (summary by Bonthron et al., 1994). (229800)

MalaCards based summary : Fructosuria, Essential, also known as ketohexokinase deficiency, is related to fructose intolerance, hereditary and pentosuria. An important gene associated with Fructosuria, Essential is KHK (Ketohexokinase). Affiliated tissues include liver, and related phenotypes are impairment of fructose metabolism and Strongly decreased CFP-tsO45G cell surface transport

UniProtKB/Swiss-Prot : 74 Fructosuria: Benign defect of intermediary metabolism.

Wikipedia : 75 Essential fructosuria, caused by a deficiency of the enzyme hepatic fructokinase, is a clinically benign... more...

Related Diseases for Fructosuria, Essential

Diseases related to Fructosuria, Essential via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 fructose intolerance, hereditary 10.4
2 pentosuria 10.3
3 fatty liver disease, nonalcoholic 1 10.1
4 cholecystitis 10.1
5 hepatitis 10.1
6 glycogen storage disease 10.1
7 pulmonary tuberculosis 10.1
8 carbohydrate metabolic disorder 10.1
9 lipid metabolism disorder 10.1
10 pyoderma 10.1
11 liver cirrhosis 10.1
12 connective tissue disease 10.1
13 inherited metabolic disorder 10.1
14 hypoglycemia 10.1

Graphical network of the top 20 diseases related to Fructosuria, Essential:



Diseases related to Fructosuria, Essential

Symptoms & Phenotypes for Fructosuria, Essential

Human phenotypes related to Fructosuria, Essential:

32
# Description HPO Frequency HPO Source Accession
1 impairment of fructose metabolism 32 HP:0011033

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
fructosuria

Clinical features from OMIM:

229800

GenomeRNAi Phenotypes related to Fructosuria, Essential according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Strongly decreased CFP-tsO45G cell surface transport GR00360-A-2 8.62 EMILIN1 KHK

Drugs & Therapeutics for Fructosuria, Essential

Search Clinical Trials , NIH Clinical Center for Fructosuria, Essential

Genetic Tests for Fructosuria, Essential

Genetic tests related to Fructosuria, Essential:

# Genetic test Affiliating Genes
1 Fructosuria, Essential 29 KHK

Anatomical Context for Fructosuria, Essential

MalaCards organs/tissues related to Fructosuria, Essential:

41
Liver

Publications for Fructosuria, Essential

Articles related to Fructosuria, Essential:

# Title Authors PMID Year
1
Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase). 8 71
7833921 1994
2
Changes of liver metabolite concentrations in adults with disorders of fructose metabolism after intravenous fructose by 31P magnetic resonance spectroscopy. 8
7816517 1994
3
The diagnosis of hereditary fructose intolerance. 8
6268573 1981
4
NONALIMENTARY FRUCTOSURIA. 8
14063525 1963
5
Essential benign fructosuria. 8
13759156 1961
6
Properties of normal and mutant recombinant human ketohexokinases and implications for the pathogenesis of essential fructosuria. 38
12941785 2003

Variations for Fructosuria, Essential

ClinVar genetic disease variations for Fructosuria, Essential:

6 (show all 49)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KHK NM_000221.3(KHK): c.118G> A (p.Gly40Arg) single nucleotide variant Affects rs104893643 2:27315225-27315225 2:27092357-27092357
2 KHK NM_000221.3(KHK): c.127G> A (p.Ala43Thr) single nucleotide variant Affects rs104893644 2:27315234-27315234 2:27092366-27092366
3 KHK NM_000221.3(KHK): c.-379T> A single nucleotide variant Uncertain significance rs886055883 2:27309749-27309749 2:27086881-27086881
4 KHK NM_000221.3(KHK): c.*791G> A single nucleotide variant Uncertain significance rs886055894 2:27323409-27323409 2:27100541-27100541
5 KHK NM_000221.3(KHK): c.288C> G (p.Ile96Met) single nucleotide variant Uncertain significance rs202153228 2:27317423-27317423 2:27094555-27094555
6 KHK NM_000221.3(KHK): c.527G> A (p.Arg176Gln) single nucleotide variant Uncertain significance rs143669793 2:27320480-27320480 2:27097612-27097612
7 KHK NM_000221.3(KHK): c.790G> A (p.Val264Ile) single nucleotide variant Uncertain significance rs114353144 2:27322424-27322424 2:27099556-27099556
8 KHK NM_000221.3(KHK): c.818G> A (p.Ser273Asn) single nucleotide variant Uncertain significance rs575951862 2:27322539-27322539 2:27099671-27099671
9 KHK NM_000221.3(KHK): c.*49C> T single nucleotide variant Uncertain significance rs776688675 2:27322667-27322667 2:27099799-27099799
10 KHK NM_000221.3(KHK): c.*159G> A single nucleotide variant Uncertain significance rs886055892 2:27322777-27322777 2:27099909-27099909
11 KHK NM_000221.3(KHK): c.-97G> A single nucleotide variant Uncertain significance rs886055885 2:27310031-27310031 2:27087163-27087163
12 KHK NM_000221.3(KHK): c.-15T> G single nucleotide variant Uncertain significance rs763655731 2:27310113-27310113 2:27087245-27087245
13 KHK NM_000221.3(KHK): c.473C> A (p.Thr158Asn) single nucleotide variant Uncertain significance rs773003580 2:27320426-27320426 2:27097558-27097558
14 KHK NM_000221.3(KHK): c.499C> T (p.Arg167Trp) single nucleotide variant Uncertain significance rs886055887 2:27320452-27320452 2:27097584-27097584
15 KHK NM_000221.3(KHK): c.500G> A (p.Arg167Gln) single nucleotide variant Uncertain significance rs201707861 2:27320453-27320453 2:27097585-27097585
16 KHK NM_000221.3(KHK): c.557G> A (p.Gly186Glu) single nucleotide variant Uncertain significance rs886055888 2:27320510-27320510 2:27097642-27097642
17 KHK NM_000221.3(KHK): c.643G> C (p.Val215Leu) single nucleotide variant Uncertain significance rs886055889 2:27322142-27322142 2:27099274-27099274
18 KHK NM_000221.3(KHK): c.*27A> G single nucleotide variant Uncertain significance rs189674797 2:27322645-27322645 2:27099777-27099777
19 KHK NM_000221.3(KHK): c.*28T> C single nucleotide variant Uncertain significance rs745543858 2:27322646-27322646 2:27099778-27099778
20 KHK NM_000221.3(KHK): c.*198A> C single nucleotide variant Uncertain significance rs886055893 2:27322816-27322816 2:27099948-27099948
21 KHK NM_000221.3(KHK): c.*469G> A single nucleotide variant Uncertain significance rs187387157 2:27323087-27323087 2:27100219-27100219
22 KHK NM_000221.3(KHK): c.*505G> A single nucleotide variant Uncertain significance rs78939351 2:27323123-27323123 2:27100255-27100255
23 KHK NM_000221.3(KHK): c.*810A> C single nucleotide variant Uncertain significance rs543665606 2:27323428-27323428 2:27100560-27100560
24 KHK NM_000221.3(KHK): c.-245G> A single nucleotide variant Uncertain significance rs192615638 2:27309883-27309883 2:27087015-27087015
25 KHK NM_000221.3(KHK): c.-140G> A single nucleotide variant Uncertain significance rs886055884 2:27309988-27309988 2:27087120-27087120
26 KHK NM_000221.3(KHK): c.159C> T (p.Leu53=) single nucleotide variant Uncertain significance rs112920456 2:27315266-27315266 2:27092398-27092398
27 KHK NM_000221.3(KHK): c.210-11C> T single nucleotide variant Uncertain significance rs368871098 2:27317334-27317334 2:27094466-27094466
28 KHK NM_000221.3(KHK): c.250C> T (p.Arg84Cys) single nucleotide variant Uncertain significance rs886055886 2:27317385-27317385 2:27094517-27094517
29 KHK NM_000221.3(KHK): c.*52C> T single nucleotide variant Uncertain significance rs747976594 2:27322670-27322670 2:27099802-27099802
30 KHK NM_000221.3(KHK): c.*200A> G single nucleotide variant Uncertain significance rs751205514 2:27322818-27322818 2:27099950-27099950
31 KHK NM_000221.3(KHK): c.*326G> A single nucleotide variant Uncertain significance rs148558475 2:27322944-27322944 2:27100076-27100076
32 KHK NM_000221.3(KHK): c.322C> T (p.Arg108Cys) single nucleotide variant Uncertain significance rs141417422 2:27317457-27317457 2:27094589-27094589
33 KHK NM_000221.3(KHK): c.463G> A (p.Ala155Thr) single nucleotide variant Uncertain significance rs776211460 2:27320416-27320416 2:27097548-27097548
34 KHK NM_000221.3(KHK): c.680_682AGG[1] (p.Glu228del) short repeat Uncertain significance rs745546639 2:27322317-27322319 2:27099449-27099451
35 KHK NM_000221.3(KHK): c.820G> A (p.Val274Met) single nucleotide variant Uncertain significance rs138164728 2:27322541-27322541 2:27099673-27099673
36 KHK NM_000221.3(KHK): c.*580T> C single nucleotide variant Likely benign rs7573066 2:27323198-27323198 2:27100330-27100330
37 KHK NM_000221.3(KHK): c.*754T> C single nucleotide variant Likely benign rs73921452 2:27323372-27323372 2:27100504-27100504
38 KHK NM_000221.3(KHK): c.*540G> C single nucleotide variant Likely benign rs60769101 2:27323158-27323158 2:27100290-27100290
39 KHK NM_000221.3(KHK): c.-444C> A single nucleotide variant Likely benign rs116365550 2:27309684-27309684 2:27086816-27086816
40 KHK NM_000221.3(KHK): c.*20_*21AC[2] short repeat Likely benign rs370253620 2:27322642-27322643 2:27099774-27099775
41 KHK NM_000221.3(KHK): c.*806G> A single nucleotide variant Likely benign rs113859516 2:27323424-27323424 2:27100556-27100556
42 KHK NM_000221.3(KHK): c.*79G> A single nucleotide variant Likely benign rs75067630 2:27322697-27322697 2:27099829-27099829
43 KHK NM_000221.3(KHK): c.*1009T> G single nucleotide variant Likely benign rs78413769 2:27323627-27323627 2:27100759-27100759
44 KHK NM_000221.3(KHK): c.210-5A> G single nucleotide variant Likely benign rs74537742 2:27317340-27317340 2:27094472-27094472
45 KHK NM_000221.3(KHK): c.-324C> T single nucleotide variant Likely benign rs114973335 2:27309804-27309804 2:27086936-27086936
46 KHK NM_000221.3(KHK): c.-449T> G single nucleotide variant Likely benign rs116028777 2:27309679-27309679 2:27086811-27086811
47 KHK NM_000221.3(KHK): c.-469A> C single nucleotide variant Benign rs6742004 2:27309659-27309659 2:27086791-27086791
48 KHK NM_000221.3(KHK): c.145G> A (p.Val49Ile) single nucleotide variant Benign rs2304681 2:27315252-27315252 2:27092384-27092384
49 KHK NM_000221.3(KHK): c.*767C> T single nucleotide variant Benign rs1131375 2:27323385-27323385 2:27100517-27100517

UniProtKB/Swiss-Prot genetic disease variations for Fructosuria, Essential:

74
# Symbol AA change Variation ID SNP ID
1 KHK p.Gly40Arg VAR_006072 rs104893643
2 KHK p.Ala43Thr VAR_006073 rs104893644

Expression for Fructosuria, Essential

Search GEO for disease gene expression data for Fructosuria, Essential.

Pathways for Fructosuria, Essential

GO Terms for Fructosuria, Essential

Biological processes related to Fructosuria, Essential according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 8.62 EMILIN1 CGREF1

Sources for Fructosuria, Essential

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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